Canonical Allele Identifier: CA314122

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 205244
• ClinVar RCV Id: RCV002221212
• dbSNP Id: rs752550849
• ExAC: 7:146997331 C / T
• gnomAD v2: 7-146997331-C-T
• gnomAD v3: 7-147300239-C-T
• gnomAD v4: 7-147300239-C-T
• COSMIC: COSM1699530
• MyVariant Identifiers: chr7:g.146997331C>T (hg19) ; chr7:g.147300239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147300239C>T , CM000669.2:g.147300239C>T	GRCh38
NC_000007.13:g.146997331C>T , CM000669.1:g.146997331C>T	GRCh37
NC_000007.12:g.146628264C>T	NCBI36
NG_007092.2:g.1188879C>T
NG_007092.3:g.1189239C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1447C>T MANE Select	ENSP00000354778.3:p.Arg483Ter
ENST00000636870.1:n.1309C>T
ENST00000637694.1:n.1350C>T
ENST00000637825.1:n.930C>T
ENST00000638117.1:n.1350C>T
ENST00000361727.7:c.1447C>T	ENSP00000354778.3:p.Arg483Ter
NM_014141.5:c.1447C>T	NP_054860.1:p.Arg483Ter
XM_006715919.1:c.-66C>T	XP_006715982.1:n.-66C>T
XM_017011950.2:c.1447C>T	XP_016867439.1:p.Arg483Ter
NM_014141.6:c.1447C>T MANE Select	NP_054860.1:p.Arg483Ter